Familial trisomy 6p in mother and daughter. Issue 7 (17th May 2013)

• Record Type: Journal Article
• Authors: Savarese, Marco; Grandone, Anna; Perone, Lucia; Blanco, Francesca Del Vecchio; De Luca, Giuseppina; Di Fruscio, Giuseppina; Fogu, Giuseppina; Piluso, Giulio; Perrone, Laura; del Giudice, Emanuele Miraglia; Nigro, Vincenzo
• Is Part Of: American journal of medical genetics. Volume 161:Issue 7(2013:Jul.)
• Page Start: 1675
• Page End: 1681
• Publication Date: 2013-05-17
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35928
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga35928-sec-0001" sec-type="section"> <p>Several patients with partial trisomy 6p resulting from parental balanced translocations or from a de novo duplication or insertion have already been described. Here, we report on the first case of familial pure trisomy 6p as a result of interstitial tandem duplication. The patient, an 11‐year‐old female, presented with mild dysmorphic features, moderate intellectual disability with behavioral disturbances, immunodeficiency, and epilepsy. Conventional cytogenetic analysis showed a duplication of the 6p region in the patient and in her mother presenting with a partially overlapping phenotype. The rearrangement was confirmed and defined by molecular cytogenetic analysis, including FISH and array CGH analysis showing a gain of ∼13.8 Mb from 6p12.3 to 6p21.31. The phenotype of a pure partial trisomy 6p is extremely heterogeneous depending on the gene contents of the duplicated region. The clinical features of our patients have been compared with overlapping cases from the literature. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>